The story of biotinidase deficiency and its introduction into newborn screening: The role of serendipity

Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations

Abstract

Today, all of the states in the United States and many countries screen their newborns for biotinidase deficiency. Biotinidase deficiency meets the major criteria for including a disorder into screening programs. However, rarely do we learn the actual story behind the discovery of a disorder where the underlying etiology was elusive or about the events leading to a disorder's incorporation into a newborn screening program. This is the story of the role that serendipity played in the story of biotinidase deficiency and the newborn screening of the disorder.

Original languageEnglish (US)
Pages (from-to)3-12
Number of pages10
JournalInternational Journal of Neonatal Screening
Volume1
Issue number1
DOIs
StatePublished - Jun 2015

Keywords

  • Biotinidase
  • Biotinidase deficiency
  • Newborn screening
  • Screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Immunology and Microbiology (miscellaneous)
  • Obstetrics and Gynecology

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